chr11:47257366:C>T Detail (hg38) (NR1H3)

Information

Genome

Assembly Position
hg19 chr11:47,278,917-47,278,917 View the variant detail on this assembly version.
hg38 chr11:47,257,366-47,257,366

HGVS

Type Transcript Protein
RefSeq NM_001130102.2:c.-92-2425C>T
NM_001251934.1:c.62-2425C>T
NM_001251935.1:c.62-2425C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.737
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 602423 OMIM
HGNC 7966 HGNC
Ensembl ENSG00000025434 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv42447179 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 Diabetes Mellitus, Non-Insulin-Dependent One thousand five hundred seventy-four subjects of European ancestry with elevat... BeFree 21042792 Detail
Annotation

Annotations

DescrptionSourceLinks
One thousand five hundred seventy-four subjects of European ancestry with elevated risk for type 2 d... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3758673 dbSNP
Genome
hg38
Position
chr11:47,257,366-47,257,366
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs3758673
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.737
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12350
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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